Osteogenesis imperfecta (OA) is a group of genetically determined diseases based on a violation of bone formation. In practice, this means that a child is prone to frequent bone fractures from birth, which occur with minimal impact or even in the absence of injury.
These diseases (approximately 1 case per 10-20 thousand newborns) are based on genetic disorders that lead to insufficient production or disruption of the structure of type I collagen, the main protein of bone tissue. And since the cause of the disease is genetic disorders, currently only symptomatic (aimed at eliminating symptoms) and partially pathogenetic (affecting the development of the disease) treatment is possible. The goal of treating patients with type I is their full–fledged normal life, with moderate severity, the goal of treatment is self-sufficiency (autonomy), and with type II, a good result can be considered simply the survival of a newborn.
The "gold standard" for the treatment of osteoporosis, the main problem in NO, is the use of bisphosphonates (pamidronate, zoledronic acid, alendronate, etc.), substances that penetrate into bone tissue and inhibit its destruction. Growth hormone, which enhances bone metabolism and promotes the growth of tubular bones, has limited but sometimes very successful use. Other medicines used in the treatment of chronic kidney disease include calcium and vitamin D preparations, which are of auxiliary importance.
A physical rehabilitation program plays an equally important role than medications. After several fractures, children and parents begin to be afraid of movement, preferring, as it seems to them, the safest way of existence – immobilized. As a result, not only muscle atrophy occurs, but also the so-called hypokinetic osteoporosis, which significantly predisposes to fractures more than adequate physical activity. Since the goal of treatment is a full–fledged life or at least complete autonomy, the task of doctors is to change the ideas of children and parents about safety and teach them exercises with which they will gradually move towards the main goal.
At some stage of treatment, the severity of bone deformities may interfere with further habilitation (a set of measures aimed at adapting patients to life). In such cases, surgical treatment is used – corrective osteotomy with intramedullary osteosynthesis. These words mean that the deformed bone is cut, the segments are compared in such a way that the axis of the limb is restored, and then reinforced with a pin that is inserted into the spinal canal. The purpose of the operation is to restore function, not just cosmetic correction of the limb, so it is performed only when the patient is ready to load this limb.
The greatest success in the treatment and habilitation of patients with NO is brought by an interdisciplinary approach, which is fully implemented in European Medical Center (EMC). It organizes full-fledged treatment and examination of children with NOS during 2-3-day planned hospitalizations, to which children are invited every 2-4 months. A group of specialists consisting of a pediatrician, a geneticist, an orthopedist, a rehabilitologist and psychologists participates in the process. The participation of psychologists is necessary, as they help in solving family problems, increase motivation for treatment, help to combat fears (the main of which is the fear of fracture), and socially adapt children. The decision on surgical treatment is also made collectively, when all the group members agree that the child is ready for surgery.
If it is necessary to install telescopic pins that are not licensed in our country, EMC Assistance (a division of the European Medical Center specializing in organizing treatment abroad) sends children to Germany, ensuring both the organization of the trip itself and the continuity of treatment with subsequent rehabilitation at the EMC clinic.
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